Results 211 to 220 of about 20,451 (238)

Joubert syndrome presenting bilateral peroneal neuropathies: A case report. [PDF]

Medicine (Baltimore)
Kim HM, Jo HS, Han JY, Choi IS, Song MK, Park HK.   +5 more
europepmc   +1 more source

Novel CC2D2A compound heterozygous mutations cause Joubert syndrome

, 2016
Daimin Xiao, Chunli Lv, Zhimin Zhang, Mingsong Wu, Xiang Zheng, Lei Yang, Xueying Li, Guan Wu, Jindong Chen   +8 more
openalex   +2 more sources

Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system. [PDF]

Biol Open
Noble AR, Masek M, Hofmann C, Cuoco A, Rusterholz TDS, Özkoc H, Greter NR, Phelps IG, Vladimirov N, Kollmorgen S, Stoeckli E, Bachmann-Gagescu R.   +11 more
europepmc   +1 more source

Brèves [PDF]

, 2006
Ameisen, Jean-Claude, Ardaillou, Raymond, Bensussan, Armand, Bohler, Marie-Christine, Borensztein, Pascale, Chneiweiss, Hervé, Costagliola, Dominique, Coulombel, Laure, Ehrenberg, Alain, Epelbaum, Jacques, Ferrary, Évelyne, Ferré, Pascal, Friedlander, Gérard, Galli, Thierry, Gilgenkrantz, Hélène, Gilgenkrantz, Simone, Hamelin, Richard, Hatem, Stéphane, Labie, Dominique, Lortholary, Olivier, Moulin, Anne-Marie, Parent, Lucie, Sauvé, Rémy, Schmitt, Christian   +23 more
core  

A case of middle-aged central sleep apnea due to Joubert syndrome with different treatment effects of oxygen and acetazolamide. [PDF]

J Clin Sleep Med
Murashima R, Shiota S, Sugiyama A, Katsu K, Kuroda Y, Sato Y, Mitsuishi Y, Shiroshita N, Kawana F, Kasai T, Akashi T, Takahashi K.   +11 more
europepmc   +1 more source

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome. [PDF]

Eur J Hum Genet
D'Abrusco F, Serpieri V, Taccagni CM, Garau J, Cattaneo L, Boggioni M, Gana S, Battini R, Bertini E, Zanni G, Boltshauser E, Borgatti R, Romaniello R, Signorini S, Leuzzi V, Caputi C, Manti F, D'Arrigo S, De Laurentiis A, Graziano C, Lemke JR, Morelli F, Petković Ramadža D, Sirchia F, Giorgio E, Valente EM.   +25 more
europepmc   +1 more source

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family. [PDF]

Front Genet
Fang X, Ma M, Rong W, Lian YY, Wu X, Gao Y, Li HP, Sheng X.   +7 more
europepmc   +1 more source

High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses [PDF]

Balkan Med J
Bozhinovski G, Terzikj M, Kubelka-Sabit K, Plaseska-Karanfilska D.   +3 more
europepmc   +1 more source